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[Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].
Yi Chuan Xue Bao. 2005 Feb; 32(2):124-9.YC

Abstract

By using the techniques of human chromosome G-banding, high resolution banding and fluorescence in situ hybridization (FISH), we investigated a patient with the karyotype of partial trisomy 7p21.2-->pter. Combining with the comparative review of the clinical data in 14 cases with partial trisomy 7p syndrome from reported literatures,we searched for the correlation between the karyotype and the phenotype and between the karyotype and the associated gene in the patients with partial trisomy 7p syndrome. The results indicated that the 7p21.2-->p22 is the critical segment of partial trisomy 7p syndrome. The phenotypes of the genital malformation and the dislocation of hip joint are associated with the duplication of 7p15. The cardiac anomalies is resulted from the dysfunctions of several genes on the long arm of chromosome 7. The gene associated with the craniosynostosis may locate on the region of 7p21.2-->p21.3.

Authors+Show Affiliations

National Laboratory of Medical Genetics, Central South University, Changsha 410078, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

chi

PubMed ID

15759858

Citation

Liang, De-Sheng, et al. "[Phenotype Positioning On Chromosomes in a Patient With the Syndrome of Partial Trisomy 7p21.2-->pter]." Yi Chuan Xue Bao = Acta Genetica Sinica, vol. 32, no. 2, 2005, pp. 124-9.
Liang DS, Wu LQ, Cai F, et al. [Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter]. Yi Chuan Xue Bao. 2005;32(2):124-9.
Liang, D. S., Wu, L. Q., Cai, F., Xia, K., Long, Z. G., Pan, Q., Dai, H. P., & Xia, J. H. (2005). [Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter]. Yi Chuan Xue Bao = Acta Genetica Sinica, 32(2), 124-9.
Liang DS, et al. [Phenotype Positioning On Chromosomes in a Patient With the Syndrome of Partial Trisomy 7p21.2-->pter]. Yi Chuan Xue Bao. 2005;32(2):124-9. PubMed PMID: 15759858.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter]. AU - Liang,De-Sheng, AU - Wu,Ling-Qian, AU - Cai,Fang, AU - Xia,Kun, AU - Long,Zhi-Gao, AU - Pan,Qian, AU - Dai,He-Ping, AU - Xia,Jia-Hui, PY - 2005/3/12/pubmed PY - 2007/10/10/medline PY - 2005/3/12/entrez SP - 124 EP - 9 JF - Yi chuan xue bao = Acta genetica Sinica JO - Yi Chuan Xue Bao VL - 32 IS - 2 N2 - By using the techniques of human chromosome G-banding, high resolution banding and fluorescence in situ hybridization (FISH), we investigated a patient with the karyotype of partial trisomy 7p21.2-->pter. Combining with the comparative review of the clinical data in 14 cases with partial trisomy 7p syndrome from reported literatures,we searched for the correlation between the karyotype and the phenotype and between the karyotype and the associated gene in the patients with partial trisomy 7p syndrome. The results indicated that the 7p21.2-->p22 is the critical segment of partial trisomy 7p syndrome. The phenotypes of the genital malformation and the dislocation of hip joint are associated with the duplication of 7p15. The cardiac anomalies is resulted from the dysfunctions of several genes on the long arm of chromosome 7. The gene associated with the craniosynostosis may locate on the region of 7p21.2-->p21.3. SN - 0379-4172 UR - https://www.unboundmedicine.com/medline/citation/15759858/[Phenotype_positioning_on_chromosomes_in_a_patient_with_the_syndrome_of_partial_trisomy_7p21_2__>pter]_ DB - PRIME DP - Unbound Medicine ER -